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  1. No Access

    Article

    Estimating the selective effects of heterozygous protein-truncating variants from human exome data

    Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation Consortium. They find that high heterozygous selectio...

    Christopher A Cassa, Donate Weghorn, Daniel J Balick, Daniel M Jordan… in Nature Genetics (2017)

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    Article

    Reply to ‘Selective effects of heterozygous protein-truncating variants’

    Christopher A. Cassa, Donate Weghorn, Daniel J. Balick, Daniel M. Jordan… in Nature Genetics (2019)

  3. No Access

    Article

    Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications

    Studies have shown that drug targets with human genetic support are more likely to succeed in clinical trials. Hence, a tool integrating genetic evidence to prioritize drug target genes is beneficial for drug ...

    Áine Duffy, Ben Omega Petrazzini, David Stein, Joshua K. Park… in Nature Genetics (2024)

  4. No Access

    Article

    Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease

    Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in...

    Ben Omega Petrazzini, Iain S. Forrest, Ghislain Rocheleau, Ha My T. Vy… in Nature Genetics (2024)